Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

793
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
793
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

1.1K
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
1.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Design and Processing of Novel PBS/PVOH Blown Films for Food Packaging: Effect of PVOH Phase Structuring on Morphology and Functional Performance.

Polymers·2026
Same author

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Journal of inherited metabolic disease·2026
Same author

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results.

Journal of inherited metabolic disease·2026
Same author

Clinical variability of ATP11C-related hemolytic anemia: expanding the phenotypic and diagnostic spectrum.

Blood advances·2026
Same author

Refined classification and phenotype-driven analysis of PIEZO1 variants in hereditary red blood cell and iron disorders.

Blood·2026
Same author

Sant'Andrea della valle dataset: Georeferenced 2D study models of a Theatine Church.

Data in brief·2026

Related Experiment Video

Updated: Apr 23, 2026

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
12:12

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice

Published on: February 14, 2017

15.9K

Left ventricular diastolic dysfunction in type I Gaucher disease: an echo Doppler study.

Francesco Lo Iudice1, Antonio Barbato2, Riccardo Muscariello2

  • 1Hypertension Research Center and Department of Medical Translational Sciences, Federico II University Hospital, Naples, Italy.

Echocardiography (Mount Kisco, N.Y.)
|September 25, 2014
PubMed
Summary

Type I Gaucher disease (GD1) is linked to subclinical left ventricular (LV) diastolic dysfunction. This dysfunction, characterized by impaired relaxation, occurs independently of arterial hypertension in GD1 patients.

Keywords:
Gaucher diseaseatrial filling fractiondiastoleechocardiographyleft ventricle

More Related Videos

Echocardiographic Measurement of Right Ventricular Diastolic Parameters in Mouse
06:04

Echocardiographic Measurement of Right Ventricular Diastolic Parameters in Mouse

Published on: April 27, 2019

7.2K
Echocardiographic Assessment of Cardiac Anatomy and Function in Adult Rats
08:09

Echocardiographic Assessment of Cardiac Anatomy and Function in Adult Rats

Published on: December 13, 2019

24.3K

Related Experiment Videos

Last Updated: Apr 23, 2026

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
12:12

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice

Published on: February 14, 2017

15.9K
Echocardiographic Measurement of Right Ventricular Diastolic Parameters in Mouse
06:04

Echocardiographic Measurement of Right Ventricular Diastolic Parameters in Mouse

Published on: April 27, 2019

7.2K
Echocardiographic Assessment of Cardiac Anatomy and Function in Adult Rats
08:09

Echocardiographic Assessment of Cardiac Anatomy and Function in Adult Rats

Published on: December 13, 2019

24.3K

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Diseases

Background:

  • Type I Gaucher disease (GD1) is a lysosomal storage disorder causing multiorgan damage.
  • Left ventricular (LV) involvement in GD1 is infrequently reported, necessitating further investigation.

Purpose of the Study:

  • To assess LV geometry and diastolic function in GD1 patients.
  • To compare LV parameters in GD1 patients with normal controls and hypertensive patients.

Main Methods:

  • Standard echocardiography was performed on 18 GD1 patients, 18 normal controls (NC), and 18 hypertensive patients (HTN).
  • Evaluated parameters included LV mass index, relative wall thickness, ejection fraction, transmitral E/A ratio, deceleration time (DT), atrial filling fraction (AFF), E/e' ratio, and left atrial volume index.

Main Results:

  • GD1 patients showed significantly longer DT and greater AFF compared to NC and HTN, indicating diastolic dysfunction.
  • These findings persisted after adjusting for heart rate, suggesting independence from hypertension.
  • No significant differences were found in LV mass index or relative wall thickness between groups.

Conclusions:

  • GD1 is associated with subclinical LV diastolic dysfunction, specifically impaired relaxation.
  • This dysfunction is independent of coexisting arterial hypertension in GD1 patients.
  • Myocardial infiltrative damage in GD1 may underlie the observed diastolic alterations.